Human Molecular Genetics of Vascular Disease

描述（由申请人提供）：自人类基因组计划完成以来，旨在了解复杂人类疾病的遗传技术迅速发展，包括用于病例对照和基于人群的关联检测和测序的高密度SNP基因分型。通过全基因组关联研究（GWAS）应用这些遗传学方法，已经导致了200多种与常见复杂疾病的新遗传关联。目前，该研究领域的一个主要权宜之计是了解这些关联的功能影响。通过这个P30奖，我们将启动和维持一个研究计划，重点是与血管疾病相关的遗传变异的分子后果。该计划将成为密歇根大学心血管医学部多学科研究组合的一部分，因为我们将我们在血管医学和生物学方面不断发展的计划扩展到遗传学领域。我们寻求招募一名新的独立调查员，他具有调查这些遗传变异导致或促成人类血管疾病的机制的技能和专业知识。

DESCRIPTION (provided by applicant): Since the completion of the Human Genome Project, there has been a rapid expansion in genetic technologies aimed at understanding complex human diseases, including high-density SNP genotyping for case-control and population based association testing and sequencing. The application of these genetic methods through genome-wide association studies (GWAS) have led to over 200 novel genetic associations with common, complex diseases. Currently, a major stop-gap in this area of research is understanding the functional impact of these associations. Through this P30 Award, we will initiate and maintain a program of research focused on the molecular consequences of genetic variants associated with vascular diseases. This program will be a part of the multidisciplinary research portfolio of the Division of Cardiovascular Medicine at the University of Michigan, as we expand our growing programs in vascular medicine and biology into the realm of genetics. We seek to recruit a newly independent investigator who has the skills and expertise to investigate the mechanism by which these genetic variants cause or contribute to human vascular diseases.